Incidental Mutation 'IGL03181:Dcn'
ID 412262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcn
Ensembl Gene ENSMUSG00000019929
Gene Name decorin
Synonyms DC, SLRR1B
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 10
Chromosomal Location 97315471-97354005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 97319314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 30 (E30D)
Ref Sequence ENSEMBL: ENSMUSP00000131431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105287] [ENSMUST00000163448] [ENSMUST00000219784]
AlphaFold P28654
Predicted Effect probably damaging
Transcript: ENSMUST00000105287
AA Change: E30D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100924
Gene: ENSMUSG00000019929
AA Change: E30D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 48 80 3.86e-11 SMART
LRR 79 98 2.54e1 SMART
LRR 99 122 1.14e0 SMART
LRR_TYP 123 146 2.91e-2 SMART
LRR 147 167 1.67e2 SMART
LRR 168 193 1.29e2 SMART
LRR 194 217 5.27e1 SMART
LRR 239 262 6.05e0 SMART
LRR 263 286 1.01e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163448
AA Change: E30D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131431
Gene: ENSMUSG00000019929
AA Change: E30D

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
LRRNT 48 80 3.86e-11 SMART
LRR 79 98 2.54e1 SMART
LRR 99 122 1.14e0 SMART
LRR_TYP 123 146 2.91e-2 SMART
LRR 147 167 1.67e2 SMART
LRR 168 193 1.29e2 SMART
LRR 194 217 5.27e1 SMART
LRR 239 262 6.05e0 SMART
LRR 263 286 1.01e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219539
Predicted Effect probably benign
Transcript: ENSMUST00000219784
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate a mature protein product, which is secreted into the extracellular space to regulate collagen fibril assembly. Homozygous knockout mice for this gene exhibit enhanced tumorigenesis in a liver cancer model, and defects in collagen fibrils, leading to weakened skin and tendons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutant mice have fragile skin and exhibit abnormal collagen morphology in skin and tendons, supporting this gene's role in regulating collagen fiber formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Dcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Dcn APN 10 97,319,385 (GRCm39) missense probably damaging 1.00
IGL01776:Dcn APN 10 97,330,938 (GRCm39) missense possibly damaging 0.88
IGL02608:Dcn APN 10 97,319,319 (GRCm39) missense probably damaging 0.99
IGL02990:Dcn APN 10 97,345,835 (GRCm39) missense probably benign 0.00
IGL03268:Dcn APN 10 97,319,240 (GRCm39) missense probably benign
PIT4791001:Dcn UTSW 10 97,343,604 (GRCm39) missense probably benign
R0091:Dcn UTSW 10 97,342,551 (GRCm39) missense probably benign 0.00
R0267:Dcn UTSW 10 97,342,345 (GRCm39) splice site probably benign
R1759:Dcn UTSW 10 97,349,517 (GRCm39) missense probably benign 0.01
R1845:Dcn UTSW 10 97,342,536 (GRCm39) missense probably benign 0.00
R5322:Dcn UTSW 10 97,353,464 (GRCm39) missense probably benign 0.03
R6613:Dcn UTSW 10 97,330,902 (GRCm39) missense probably benign 0.03
R6650:Dcn UTSW 10 97,343,605 (GRCm39) missense probably benign 0.00
R7392:Dcn UTSW 10 97,345,860 (GRCm39) missense probably damaging 0.98
R7596:Dcn UTSW 10 97,345,871 (GRCm39) missense probably damaging 1.00
R7626:Dcn UTSW 10 97,319,340 (GRCm39) missense possibly damaging 0.75
R7874:Dcn UTSW 10 97,346,056 (GRCm39) splice site probably null
R8017:Dcn UTSW 10 97,319,397 (GRCm39) missense probably damaging 1.00
R8049:Dcn UTSW 10 97,349,479 (GRCm39) missense probably damaging 1.00
R8316:Dcn UTSW 10 97,330,939 (GRCm39) missense probably damaging 1.00
R9254:Dcn UTSW 10 97,343,643 (GRCm39) missense probably damaging 1.00
R9273:Dcn UTSW 10 97,343,637 (GRCm39) missense probably damaging 1.00
R9379:Dcn UTSW 10 97,343,643 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02